Canonical Allele Identifier: CA374864248

Gene: CRB2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123370938T>A , CM000671.2:g.123370938T>A	GRCh38
NC_000009.11:g.126133217T>A , CM000671.1:g.126133217T>A	GRCh37
NC_000009.10:g.125173038T>A	NCBI36
NG_051311.1:g.21874T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.1885T>A MANE Select	ENSP00000362734.3:p.Cys629Ser
ENST00000359999.7:c.1885T>A	ENSP00000353092.3:p.Cys629Ser
ENST00000373631.7:c.1885T>A	ENSP00000362734.3:p.Cys629Ser
ENST00000460253.1:c.889T>A	ENSP00000435279.1:p.Cys297Ser
NM_173689.6:c.1885T>A	NP_775960.4:p.Cys629Ser
NR_104603.1:n.999T>A
XM_005251934.1:c.889T>A	XP_005251991.1:p.Cys297Ser
XM_011518556.1:c.1885T>A	XP_011516858.1:p.Cys629Ser
XM_011518557.1:c.1690T>A	XP_011516859.1:p.Cys564Ser
XM_011518558.1:c.1690T>A	XP_011516860.1:p.Cys564Ser
XM_005251934.3:c.889T>A	XP_005251991.1:p.Cys297Ser
XM_011518556.3:c.1885T>A	XP_011516858.1:p.Cys629Ser
XM_011518557.3:c.1690T>A	XP_011516859.1:p.Cys564Ser
XM_011518558.3:c.1690T>A	XP_011516860.1:p.Cys564Ser
NM_173689.7:c.1885T>A MANE Select	NP_775960.4:p.Cys629Ser
NR_104603.2:n.999T>A